Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs11231017 | 0.925 | 11 | 62293877 | downstream gene variant | G/A | snv | 0.29 | 5 | |||
rs13064773 | 0.925 | 3 | 158893105 | intergenic variant | G/A | snv | 0.39 | 5 | |||
rs16823858 | 0.925 | 3 | 115559835 | intron variant | G/A;C | snv | 5 | ||||
rs17151904 | 0.925 | 7 | 25568789 | TF binding site variant | G/A;C | snv | 5 | ||||
rs6594357 | 0.925 | 5 | 109205522 | intergenic variant | T/A;C | snv | 5 | ||||
rs6723162 | 0.925 | 2 | 70875156 | intergenic variant | A/T | snv | 0.65 | 5 | |||
rs7458938 | 0.925 | 7 | 125820594 | intergenic variant | G/A | snv | 0.72 | 5 | |||
rs10415893 | 1.000 | 19 | 17401603 | upstream gene variant | G/A | snv | 0.18 | 1 | |||
rs6996198 | 1.000 | 8 | 64550885 | downstream gene variant | C/T | snv | 0.18 | 1 | |||
rs10831234 | 1.000 | 11 | 94500021 | downstream gene variant | C/T | snv | 0.11 | 1 | |||
rs1047552 | 0.925 | 0.080 | 15 | 63305658 | missense variant | T/A;G | snv | 6.1E-02 | 4.7E-02 | 2 | |
rs8177832 | 0.851 | 0.160 | 22 | 39081561 | missense variant | A/G | snv | 5.9E-02 | 0.14 | 5 | |
rs2294367 | 1.000 | 22 | 39083569 | intron variant | C/A;G | snv | 1 | ||||
rs35228531 | 1.000 | 22 | 39087839 | upstream gene variant | C/G;T | snv | 1 | ||||
rs3736685 | 1.000 | 22 | 39081386 | intron variant | T/C | snv | 0.14 | 1 | |||
rs6001417 | 1.000 | 22 | 39081372 | intron variant | C/G | snv | 0.14 | 1 | |||
rs139292 | 1.000 | 22 | 39100318 | inframe deletion | CAA/- | delins | 1 | ||||
rs139297 | 1.000 | 22 | 39101399 | missense variant | G/A;C;T | snv | 4.0E-06; 0.47 | 1 | |||
rs143633948 | 0.882 | 0.080 | 6 | 131504454 | intron variant | G/A;C | snv | 6 | |||
rs3217318 | 1.000 | 19 | 17406018 | non coding transcript exon variant | GGGGCGGGGCCTGGGTCTG/-;GGGGCGGGGCCTGGGTCTGGGGGCGGGGCCTGGGTCTG | delins | 1 | ||||
rs9576 | 1.000 | 19 | 17403172 | 3 prime UTR variant | T/G | snv | 0.92 | 1 | |||
rs73132848 | 0.882 | 0.080 | 3 | 8764738 | intron variant | G/A | snv | 9.3E-02 | 6 | ||
rs1799864 | 0.572 | 0.680 | 3 | 46357717 | missense variant | G/A | snv | 0.13 | 0.12 | 68 | |
rs183662584 | 1.000 | 3 | 46373218 | missense variant | G/A | snv | 5.2E-04 | 1.5E-04 | 2 | ||
rs147879075 | 1.000 | 3 | 46373902 | stop gained | C/A;G;T | snv | 1.6E-05; 8.2E-06; 4.1E-06 | 1 |